Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 132641 single nucleotide variant NM_005861.3(STUB1):c.493C>T (p.Leu165Phe) 587777340 MedGen:CN186321,OMIM:615768 16 681572 681572 C T 132641 single nucleotide variant NM_005861.3(STUB1):c.493C>T (p.Leu165Phe) 587777340 MedGen:CN186321,OMIM:615768 16 731572 731572 C T 132642 single nucleotide variant NM_005861.3(STUB1):c.389A>T (p.Asn130Ile) 587777341 MedGen:CN186321,OMIM:615768 16 681468 681468 A T 132642 single nucleotide variant NM_005861.3(STUB1):c.389A>T (p.Asn130Ile) 587777341 MedGen:CN186321,OMIM:615768 16 731468 731468 A T 132643 single nucleotide variant NM_005861.3(STUB1):c.441G>T (p.Trp147Cys) 587777342 MedGen:CN186321,OMIM:615768 16 681520 681520 G T 132643 single nucleotide variant NM_005861.3(STUB1):c.441G>T (p.Trp147Cys) 587777342 MedGen:CN186321,OMIM:615768 16 731520 731520 G T 132644 single nucleotide variant NM_005861.3(STUB1):c.737C>T (p.Thr246Met) 587777343 MedGen:CN186321,OMIM:615768 16 682232 682232 C T 132644 single nucleotide variant NM_005861.3(STUB1):c.737C>T (p.Thr246Met) 587777343 MedGen:CN186321,OMIM:615768 16 732232 732232 C T 132645 single nucleotide variant NM_005861.3(STUB1):c.367C>G (p.Leu123Val) 587777344 MedGen:CN186321,OMIM:615768 16 681446 681446 C G 132645 single nucleotide variant NM_005861.3(STUB1):c.367C>G (p.Leu123Val) 587777344 MedGen:CN186321,OMIM:615768 16 731446 731446 C G 132646 single nucleotide variant NM_005861.3(STUB1):c.719T>C (p.Met240Thr) 587777345 MedGen:CN186321,OMIM:615768 16 682214 682214 T C 132646 single nucleotide variant NM_005861.3(STUB1):c.719T>C (p.Met240Thr) 587777345 MedGen:CN186321,OMIM:615768 16 732214 732214 T C 132647 single nucleotide variant NM_005861.3(STUB1):c.235G>A (p.Ala79Thr) 587777346 MedGen:CN186321,OMIM:615768 16 681227 681227 G A 132647 single nucleotide variant NM_005861.3(STUB1):c.235G>A (p.Ala79Thr) 587777346 MedGen:CN186321,OMIM:615768 16 731227 731227 G A 132648 single nucleotide variant NM_005861.3(STUB1):c.236C>A (p.Ala79Asp) 587777347 MedGen:CN186321,OMIM:615768 16 681228 681228 C A 132648 single nucleotide variant NM_005861.3(STUB1):c.236C>A (p.Ala79Asp) 587777347 MedGen:CN186321,OMIM:615768 16 731228 731228 C A 171813 single nucleotide variant NM_005861.3(STUB1):c.194A>G (p.Asn65Ser) 690016544 MedGen:CN186321,OMIM:615768 16 731186 731186 A G 171813 single nucleotide variant NM_005861.3(STUB1):c.194A>G (p.Asn65Ser) 690016544 MedGen:CN186321,OMIM:615768 16 681186 681186 A G 208300 single nucleotide variant NM_005861.3(STUB1):c.433A>C (p.Lys145Gln) 146251364 MedGen:CN169374 16 681512 681512 A C 208300 single nucleotide variant NM_005861.3(STUB1):c.433A>C (p.Lys145Gln) 146251364 MedGen:CN169374 16 731512 731512 A C

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000103266.10 STUB1 607207